DiGeorge Syndrome

Definition

DiGeorge syndrome is a rare genetic disease. It is present at birth. People with complete DiGeorge syndrome have no thymus or parathyroid glands. The thymus plays an important role in the immune system. The parathyroid glands help control calcium in the blood and body.

Treatment

Treatment will be based on the symptoms your child has.
Talk with your doctor about the best treatment plan. Some options include:

Immune System Support

Some immune system problems can be severe. They may require immediate treatments.

If the thymus is missing, a thymic tissue transplant may be done. A
bone marrow transplant
may also help boost the immune system. However, there are certain risks for these procedures. The risks will be weighed against the benefits.

Other steps involve monitoring the immune system and treating infections.

Heart Defect Repairs

Heart defects can impair growth and development.

Certain heart defects may need to be surgically repaired. This repair is often done in the first year of life. Other heart defects will need to be monitored throughout the child's life.

Cleft Palate Repair

A surgery or series of surgeries may be needed to repair a cleft palate. Your child may also work with a speech therapist. The therapist will help your child with feedings and speech delays.

Hypoparathyroidism Management

The missing parathyroid glands can affect the level of calcium in the body and blood. Calcium and vitamin D supplements can help to make up for low parathyroid levels. A low phosphorous diet will also help. Talk to your doctor or a dietitian about changes to your child's diet.

Early Intervention

A variety of early intervention therapies may help your child including:

Prevention

Revision Information

This content is reviewed regularly and is updated when new and relevant evidence is made available. This information is neither intended nor implied to be a substitute for professional medical advice. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with questions regarding a medical condition.